Canonical Allele Identifier: CA993666012

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12650593-C-CA
• gnomAD v4: 19-12650593-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650593_12650594insA , CM000681.2:g.12650593_12650594insA	GRCh38
NC_000019.9:g.12761407_12761408insA , CM000681.1:g.12761407_12761408insA	GRCh37
NC_000019.8:g.12622407_12622408insA	NCBI36
NG_008318.1:g.21184_21185insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2047-372_2047-371insT MANE Select	ENSP00000395473.2:n.2047-372_2047-371insT
ENST00000221363.8:c.2044-372_2044-371insT	ENSP00000221363.4:n.2044-372_2044-371insT
ENST00000456935.6:c.2047-372_2047-371insT	ENSP00000395473.2:n.2047-372_2047-371insT
ENST00000466794.5:n.2637-372_2637-371insT
NM_000528.3:c.2047-372_2047-371insT	NP_000519.2:n.2047-372_2047-371insT
NM_001173498.1:c.2044-372_2044-371insT	NP_001166969.1:n.2044-372_2044-371insT
XM_005259913.1:c.2050-372_2050-371insT	XP_005259970.1:n.2050-372_2050-371insT
XM_011528017.1:c.946-372_946-371insT	XP_011526319.1:n.946-372_946-371insT
XM_005259913.2:c.2050-372_2050-371insT	XP_005259970.1:n.2050-372_2050-371insT
XM_024451518.1:c.946-372_946-371insT	XP_024307286.1:n.946-372_946-371insT
NM_000528.4:c.2047-372_2047-371insT MANE Select	NP_000519.2:n.2047-372_2047-371insT
NM_001173498.2:c.2044-372_2044-371insT	NP_001166969.1:n.2044-372_2044-371insT